ClinVar Miner

Submissions for variant NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe)

gnomAD frequency: 0.02637  dbSNP: rs569543350
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238707 SCV000297055 uncertain significance not specified 2015-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000464301 SCV000562185 benign Early infantile epileptic encephalopathy with suppression bursts 2025-02-04 criteria provided, single submitter clinical testing
New York Genome Center RCV001291701 SCV001480285 uncertain significance Cerebellar atrophy with seizures and variable developmental delay 2019-10-11 criteria provided, single submitter clinical testing
GeneDx RCV001640391 SCV001856661 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920001 SCV004733412 benign CACNA2D2-related disorder 2019-04-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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